{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O75197","secondaryAccessions":["Q96TD6","Q9UES7","Q9UP66"],"uniProtkbId":"LRP5_HUMAN","entryAudit":{"firstPublicDate":"2004-05-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2005-04-12","entryVersion":224,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"24706814"}],"value":"Low-density lipoprotein receptor-related protein 5"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11336703"}],"value":"LRP-5"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VN0"}],"value":"Low-density lipoprotein receptor-related protein 7"},"shortNames":[{"value":"LRP-7"}]}],"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"24706814"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:6697"}],"value":"LRP5"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9790987"}],"value":"LR3"},{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VN0"}],"value":"LRP7"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VN0"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11336703"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11448771"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11719191"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14731402"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15778503"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15908424"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16252235"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24706814"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25920554"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27228167"}],"value":"Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:11719191, PubMed:15778503, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass (PubMed:11719191). Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs (PubMed:11336703, PubMed:14731402, PubMed:24706814, PubMed:25920554). Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development (PubMed:16252235, PubMed:27228167). Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VN0"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11336703"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11448771"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14731402"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15143163"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15778503"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15908424"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16513652"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17488095"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18762581"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19746449"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20393562"}],"value":"Homodimer; disulfide-linked. Forms phosphorylated oligomer aggregates on Wnt-signaling (By similarity). Component of a Wnt-signaling complex that contains a WNT protein, a FZD protein and LRP5 or LRP6. Interacts with FZD8; the interaction is formed on WNT-binding and signaling (PubMed:11448771). Interacts (via the phosphorylated PPPSP motif domains) with AXIN1; the interaction prevents inhibition of beta-catenin phosphorylation and signaling and is enhanced in the presence of GSK3B and WNT1 or WNT3A (PubMed:11336703, PubMed:14731402). Interacts (via beta-propeller regions 3 and 4) with DKK1; the interaction, enhanced by MESD and/or KREMEN, inhibits beta-catenin signaling by preventing GSK3-mediated phosphorylation of the PPPSP motifs and subsequent, AXIN1 binding (PubMed:11448771, PubMed:15778503, PubMed:19746449). Interacts with MESD; the interaction prevents the formation of LRP5 aggregates, targets LRP5 to the plasma membrane and, when complexed with KREMEN2, increases DKK1 binding (PubMed:15143163, PubMed:17488095, PubMed:19746449). Interacts with CSNK1E (PubMed:16513652). Interacts with SOST; the interaction antagonizes canonical Wnt signaling (PubMed:15778503, PubMed:15908424). Interacts with APCDD1 (PubMed:20393562). Interacts with CAPRIN2 (PubMed:18762581)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"O75197","intActId":"EBI-2466421"},"interactantTwo":{"uniProtKBAccession":"Q8J025","geneName":"APCDD1","intActId":"EBI-2683489"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O75197","intActId":"EBI-2466421"},"interactantTwo":{"uniProtKBAccession":"Q6IMN6","geneName":"CAPRIN2","intActId":"EBI-6918449"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O75197","intActId":"EBI-2466421"},"interactantTwo":{"uniProtKBAccession":"Q9BQB4","geneName":"SOST","intActId":"EBI-5746563"},"numberOfExperiments":5,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VN0"}],"value":"Chaperoned to the plasma membrane by MESD"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VN0"}],"value":"Membrane","id":"SL-0162"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91VN0"}],"value":"Single-pass type I membrane protein","id":"SL-9905"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25920554"}],"value":"Endoplasmic reticulum","id":"SL-0095"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9790987"}],"value":"Widely expressed, with the highest level of expression in the liver and in aorta"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"value":"Phosphorylation of cytoplasmic PPPSP motifs regulates the signal transduction of the Wnt signaling pathway through acting as a docking site for AXIN1"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11741193"}],"value":"Genetic variations in LRP5 define the bone mineral density quantitative trait locus 1 (BMND1) [MIM:601884]. Variance in bone mineral density influences bone mass and contributes to size determination in the general population"}],"commentType":"POLYMORPHISM"},{"commentType":"DISEASE","disease":{"diseaseId":"Vitreoretinopathy, exudative 1","diseaseAccession":"DI-01126","acronym":"EVR1","description":"An autosomal dominant disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.","diseaseCrossReference":{"database":"MIM","id":"133780"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27228167"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Vitreoretinopathy, exudative 4","diseaseAccession":"DI-01128","acronym":"EVR4","description":"A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. EVR4 inheritance can be autosomal dominant or autosomal recessive.","diseaseCrossReference":{"database":"MIM","id":"601813"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15024691"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15346351"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15981244"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16252235"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16929062"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19324841"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20340138"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24715757"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Osteoporosis","diseaseAccession":"DI-02659","acronym":"OSTEOP","description":"A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.","diseaseCrossReference":{"database":"MIM","id":"166710"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14727154"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15824851"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16234968"}]},"note":{"texts":[{"value":"Disease susceptibility is associated with variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Osteoporosis-pseudoglioma syndrome","diseaseAccession":"DI-02111","acronym":"OPPG","description":"A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, intellectual disability and hypotonia.","diseaseCrossReference":{"database":"MIM","id":"259770"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11719191"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16252235"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16679074"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17437160"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18602879"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28192794"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"High bone mass trait","diseaseAccession":"DI-01741","acronym":"HBM","description":"Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings.","diseaseCrossReference":{"database":"MIM","id":"601884"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11741193"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12015390"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15143163"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15824861"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17295608"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Endosteal hyperostosis, Worth type","diseaseAccession":"DI-00450","acronym":"WENHY","description":"An autosomal dominant sclerosing bone dysplasia clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and longevity.","diseaseCrossReference":{"database":"MIM","id":"144750"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12579474"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Osteopetrosis, autosomal dominant 1","diseaseAccession":"DI-00884","acronym":"OPTA1","description":"A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.","diseaseCrossReference":{"database":"MIM","id":"607634"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12579474"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Van Buchem disease 2","diseaseAccession":"DI-01122","acronym":"VBCH2","description":"VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels.","diseaseCrossReference":{"database":"MIM","id":"607636"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12579474"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Polycystic liver disease 4 with or without kidney cysts","diseaseAccession":"DI-05195","acronym":"PCLD4","description":"A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. 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